Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz194
Abstract: Single germline or somatic activating mutations of mTOR pathway genes are emerging as a major cause of Type II Focal Cortical Dysplasia (FCD), hemimegalencephaly (HME), and Tuberous Sclerosis Complex (TSC). A double hit mechanism, based… read more here.
Keywords: double hit; hemimegalencephaly; rps6; mtor ... See more keywords
Hepatic ribosomal protein S6 (Rps6) insufficiency results in failed bile duct development and loss of hepatocyte viability; a ribosomopathy-like phenotype that is partially p53-dependent
Sign Up to like & getrecommendations! Published in 2023 at "PLOS Genetics"
DOI: 10.1371/journal.pgen.1010595
Abstract: Defective ribosome biogenesis (RiBi) underlies a group of clinically diverse human diseases collectively known as the ribosomopathies, core manifestations of which include cytopenias and developmental abnormalities that are believed to stem primarily from an inability… read more here.
Keywords: ribosomal protein; development; hepatic ribosomal; bile duct ... See more keywords